Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene

Author:

Clemente María1,Vargas Alejandro1,Ariceta Gema1,Martínez Rosa2,Campos Ariadna1,Yeste Diego1

Affiliation:

1. 1Paediatric Endocrinology Unit, Department of Paediatrics

2. 2Paediatric Nephrology Service, Vall d’Hebron Hospital, Autonomous University of Barcelona, CIBERER, Barcelona Spain

Abstract

Summary HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported. Learning points: Urine specimen study in cases of HHI with diazoxide response is necessary to rule out specific metabolic conditions (l-3-hydroxyacyl-coenzyme A dehydrogenase deficiency) or tubular renal involvement. Hyperinsulinaemic hypoglycaemia due to the heterozygous mutation (p.Arg63Trp, c. 187C > T) in the HNF4A gene is associated with renal tubulopathy and liver involvement. Follow-up of patients diagnosed of HHI is mandatory to detect associated conditions.

Publisher

Bioscientifica

Subject

Endocrinology, Diabetes and Metabolism,Internal Medicine

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